ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139532760
Gene: MYOC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1686795
ClinVar RCV Id:
RCV002248300
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000252.1:p.Glu396dup
CA1139532728
NM_000261.2:c.1187_1189dup